TIMELINE: Pathology + Treatment



DEC 3, 2011: Found the lump myself in left breast

DEC 15, 2011: Ultra-sound showed suspicious 2cm mass. Mammogram followed.

DEC 23, 2011: Core Biopsy

JAN 3, 2012: DIAGNOSIS
Invasive ductal carcinoma (Stage 2b breast cancer) Grade 3/3, Estrogen + 8/8, Progesterone + 6/8, 1/12 lymph nodes (micro-met of .4mm) After surgery determined size of tumour as 2.8cm and benign fibroadenoma was also in the breast (not shown on mammogram.) NO BRCA gene mutation (negative for BRCA 1 & 2 results determined March 2013)

FEB 8, 2012: SURGERY
Single mastectomy with immediate reconstruction (implant with Alloderm), Axillary Dissection (12 nodes removed - 1 positive with micro-met of .4mm), breast reduction on "non-cancer" side to be balanced out… (went from being a DD to a small C)

IVF EMBRYO PRESERVATION
IVF was done to preserve embryos between surgery and chemo. March 5, 2012 a total of 18 eggs were harvested… 10 frozen embryos were successful preserved in the baby vault.

APRIL 3, 2012: (A/C) DOSE-DENSE CHEMO (every 2 weeks)
No port.
Adriamycin (Doxorubicin) x 4, Cyclophosphamide x 4
Zoladex Injections (aka The Harpoon) every other treatment to suppress ovaries in hopes to protect fertility - wicked hot flashes
Neupogen Injections - 8 days worth of injections following each chemo - wicked bone pain

MAY 29, 2012: (T) DOSE-DENSE CHEMO (every 2 weeks)
No port. Veins in hand collapsed by final treatment.
Taxol x 4
Zoladex Injections (aka The Harpoon) every other treatment to suppress ovaries in hopes to protect fertility - wicked hot flashes
Neupogen Injections - 8 days worth of injections following each chemo - wicked bone pain

JULY 10, 2012: LAST CHEMO
Finished on schedule with no delays. Luckily only 2 trips to emergency.

SEPT 10, 2012 - OCT 19, 2012: RADIATION
6 weeks, 28 rounds - no bolus.

NOV 2, 2012: BEGAN 5 YEARS OF TAMOXIFEN
Not a fan of it.

APRIL 3, 2013: RECONSTRUCTION SURGERY
Nipple reconstruction using extra tissue along mastectomy scar line under arm.
Fat grafting from stomach to fill in caved in area above implant on chest (most painful thing I've EVER experienced!)

SEPT 25, 2013: RECONSTRUCTION 
Nipple Micro-pigmentation

DEC 4, 2013: RECONSTRUCTION continued… 
Almost had to remove implant due to micro-pigmentation failing, infection and thinning of tissue. Not fun times.

MARCH 2014: Stopped Tamoxifen

APRIL 2014: Started monthly Zoladex again, followed by Letrozole. Fully menopausal.

JAN 23, 2016: Stopped Letrozole - Continued with Zoladex.

FEB 2016: Started Examestane temporary then back on Letrozole until end of 2016 - Continuing with Zoladex.

JAN 2017:  Zoladex Stopped 

JULY 2017:  Stage IV MBC  

APRIL 2018:  PALB2 hereditary genetic mutation exon 9 and 10 deleted. 


PALB2 exon 9 and 10 deleted + 

PALB2 c.2835-282_3113+1377del 652951

Gene: PALB2

Coding Change (c.) 

c.2835-282_3113+1377del

Protein Change (p.) 

p.Ala946_Trp1038del

ClinVar Name 

NC_000016.10:g.(?_23621352)_(23623140_?)del

ClinVar Number 

652951

Notes 


There is Czech/Slovak paper where the same mutation is listed with three women from the same family all DX with breast cancer, Grandma, Mother, Grand-daughter.

Other Names

Exon 9-10 Deletion 



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OLD -October 2021 

coding change (c.)
c.2835-?_3113+?del
protein change (p.)
p.Ala946_Trp1038del
ClinVar Name
NC_000016.10:g.(?_23621352)_(23623140_?)del
ClinVarID
652951
Genomic Coordinates
16:?_23632673-23634461_? (GRCh37)                                                                                                                
Forum Url
https://messageboard.facingourrisk.org/t/palb2-exon-9-10-del-r-2835-3113del-p-ala946-trp1038del/4626    
Notes
There is Czech/Slovak paper where the same mutation is listed with three women from the same family all DX with breast cancer, Grandma, Mother, Grand-daughter.